About   Help   FAQ
Mbnl1 Gene Detail
Summary
  • Symbol
    Mbnl1
  • Name
    muscleblind like splicing factor 1
  • Synonyms
    mKIAA0428
  • Feature Type
    protein coding gene
  • IDs
    MGI:1928482
    NCBI Gene: 56758
  • Gene Overview
    MyGene.info: MBNL1
  • Alliance
  • Transcription Start Sites
    33 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:60472830-60629750 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 29.17 cM, cytoband E1
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    776 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1928482
protein coding gene Chr3:60472788-60629750 (.)
129S1/SvImJ MGP_129S1SvImJ_G0027254
protein coding gene Chr3:59392791-59562366 (+)
A/J MGP_AJ_G0027214
protein coding gene Chr3:57662168-57826899 (+)
AKR/J MGP_AKRJ_G0027184
protein coding gene Chr3:58783877-58955941 (+)
BALB/cJ MGP_BALBcJ_G0027227
protein coding gene Chr3:57386032-57551686 (+)
C3H/HeJ MGP_C3HHeJ_G0026970
protein coding gene Chr3:58966018-59133951 (+)
C57BL/6NJ MGP_C57BL6NJ_G0027673
protein coding gene Chr3:61629543-61818681 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0025027
protein coding gene Chr3:54391067-54555932 (+)
CAST/EiJ MGP_CASTEiJ_G0026422
protein coding gene Chr3:59181508-59359943 (+)
CBA/J MGP_CBAJ_G0026946
protein coding gene Chr3:63674130-63842107 (+)
DBA/2J MGP_DBA2J_G0027080
protein coding gene Chr3:57073547-57247498 (+)
FVB/NJ MGP_FVBNJ_G0027048
protein coding gene Chr3:55967731-56133483 (+)
LP/J MGP_LPJ_G0027191
protein coding gene Chr3:60228236-60399701 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0027065
protein coding gene Chr3:67872211-68048038 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0027731
protein coding gene Chr3:58697242-58868960 (+)
PWK/PhJ MGP_PWKPhJ_G0026154
protein coding gene Chr3:56711021-56876941 (+)
SPRET/EiJ MGP_SPRETEiJ_G0025967
protein coding gene Chr3:58302634-58479017 (+)
WSB/EiJ MGP_WSBEiJ_G0026496
protein coding gene Chr3:58808640-58976367 (+)



Homology
more
  • Human Ortholog
    MBNL1, muscleblind like splicing regulator 1
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MBNL1, muscleblind like splicing regulator 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    EXP, MBNL
  • Links
    NCBI Gene ID: 4154
    neXtProt AC: NX_Q9NR56
    UniProt: Q9NR56

  • Chr Location
    3q25.1-q25.2; chr3:152243656-152465780 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 23186
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: MBNL1
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Mbnl1 mouse models

Human Disease Mouse Models
      
IDs
View 2 models
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotypes from 1 allele in 1 genetic background
    27 phenotypes from multigenic genotypes
    27 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a targeted mutation that disrupts exon 3 exhibit myotonia, cataracts and RNA splicing defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000027763 Ensembl Gene Model | MGI Sequence Detail 156921 C57BL/6J ±  kb
    transcript ENSMUST00000193517 Ensembl | MGI Sequence Detail 5151 Not Applicable  
    polypeptide ENSMUSP00000141287 Ensembl | MGI Sequence Detail 387 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      17 Sequences
    • InterPro Domains
      IPR000571 Zinc finger, CCCH-type
    Molecular
    Reagents
    less
    • All nucleic 29
      cDNA 25
      Primer pair 4

      Microarray probesets 4
    References
    more
    • Summaries
      All 81
      Developmental Gene Expression 16
      Diseases 3
      Gene Ontology 13
      Phenotypes 27
    • Earliest
      J:114763 Miller JW, et al., Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 2000 Sep 1;19(17):4439-48
    • Latest
      J:256956 Brinegar AE, et al., Extensive alternative splicing transitions during postnatal skeletal muscle development are required for calcium handling functions. Elife. 2017 Aug 11;6

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
    Warranty Disclaimer & Copyright Notice
    Send questions and comments to User Support.
    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory